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congenital contracture syndrome; Israeli Bedouin multiple contracture syndrome
Pathology:
- specific neuropathology with degeneration of anterior horn neurons
Genetics:
- autosomal recessive
Clinical manifestations:
- early fetal hydrops
- akinesia
- Pena-Shokeir phenotype
- extreme skeletal muscle atrophy
General
congenital anomaly (birth defect)
syndrome